Megalocornea-mental retardation syndrome: an additional case report

K Naritomi; Y Chinen; T Tohma

doi:10.1007/BF02766950

Megalocornea-mental retardation syndrome: an additional case report

Jpn J Hum Genet. 1997 Sep;42(3):461-5. doi: 10.1007/BF02766950.

Authors

K Naritomi¹, Y Chinen, T Tohma

Affiliation

¹ Department of Pediatrics, University of the Ryukyus School of Medicine, 207 Uehara, Nishihara, Okinawa 903-01, Japan.

PMID: 12503196
DOI: 10.1007/BF02766950

Abstract

We report here on a Japanese male infant with megalocornea-mental retardation (MMR) syndrome. He had megalocornea (corneal diameter: 13 mm) without glaucoma, developmental retardation, hypotonia, frontal bossing, high-arched palate, carp-like mouth, micrognathia, and delayed myelination. He seems to be included in Verloes type of the MMR syndrome.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / pathology
Cornea / abnormalities*
Humans
Infant
Intellectual Disability / physiopathology*
Male
Syndrome